ArticleAmyotrophic lateral sclerosis & frontotemporal degeneration2019
ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.
Article in Amyotrophic lateral sclerosis & frontotemporal degeneration, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed.
- Classification of ALS molecular subtypes: a literature review on machine learning applications and their clinical value.BMC medicine · 2026Review
- Investigating the Performance of Oxford Nanopore Long-Read Sequencing with Respect to Illumina Microarrays and Short-Read Sequencing.International journal of molecular sciences · 2025Article
- Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.Biomedicines · 2025Article
- DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data.Bioinformatics (Oxford, England) · 2023Article
- Calculating variant penetrance from family history of disease and average family size in population-scale data.Genome medicine · 2022Article
- Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.NPJ genomic medicine · 2022Article
- The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.F1000Research · 2022Article
- Motor neuron-derived induced pluripotent stem cells as a drug screening platform for amyotrophic lateral sclerosis.Frontiers in cell and developmental biology · 2022Review
- DGLinker: flexible knowledge-graph prediction of disease-gene associations.Nucleic acids research · 2021Article
- A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis.Genes · 2020Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Amyotrophic lateral sclerosis (ALS, MND) is a neurodegenerative disease of upper and lower motor neurons resulting in death from neuromuscular respiratory failure, typically within two years of first symptoms. Genetic factors are an important cause of ALS, with variants in more than 25 genes having strong evidence, and weaker evidence available for variants in more than 120 genes. With the increasing availability of next-generation sequencing data, non-specialists, including health care professionals and patients, are obtaining their genomic information without a corresponding ability to analyze and interpret it. Furthermore, the relevance of novel or existing variants in ALS genes is not always apparent. Here we present ALSgeneScanner, a tool that is easy to install and use, able to provide an automatic, detailed, annotated report, on a list of ALS genes from whole-genome sequencing (WGS) data in a few hours and whole exome sequence data in about 1 h on a readily available mid-range computer. This will be of value to non-specialists and aid in the interpretation of the relevance of novel and existing variants identified in DNA sequencing data.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.